Variant report

Variant	nsv970710
Chromosome Location	chr6:164226049-164239768
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:164222083..164224666-chr6:164228872..164231191,2	K562	blood:
2	chr6:164200297..164203061-chr6:164227570..164230293,2	K562	blood:
3	chr6:164225076..164227653-chr6:164229597..164231889,2	K562	blood:
4	chr6:164221307..164222998-chr6:164224759..164227709,3	K562	blood:
5	chr6:164236261..164240051-chr6:164242043..164246264,3	K562	blood:
6	chr6:164230399..164232201-chr6:164236575..164239292,2	K562	blood:
7	chr6:164225076..164227653-chr6:164229597..164231889,2	K562	blood:
8	chr6:164230399..164232201-chr6:164236575..164239292,2	K562	blood:
9	chr6:164197787..164199861-chr6:164232606..164234637,2	K562	blood:
10	chr6:164221458..164224410-chr6:164224950..164227898,2	K562	blood:

No data

Extended variants
information (count: 482 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557711232	chr6:164226229-164226230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577748831	chr6:164226282-164226283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543388849	chr6:164226298-164226299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35390637	chr6:164226320-164226321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs139274351	chr6:164226336-164226337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143196188	chr6:164226343-164226344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147547386	chr6:164226362-164226363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182433252	chr6:164226406-164226407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187071763	chr6:164226414-164226415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564558917	chr6:164226424-164226425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533534146	chr6:164226455-164226456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550228788	chr6:164226460-164226461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373986771	chr6:164226480-164226481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570282857	chr6:164226533-164226534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529312593	chr6:164226582-164226583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549437318	chr6:164226615-164226616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191823055	chr6:164226618-164226619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541409332	chr6:164226621-164226622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535153822	chr6:164226623-164226624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558218939	chr6:164226624-164226625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571369747	chr6:164226653-164226654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183549715	chr6:164226716-164226717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571613245	chr6:164226747-164226748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189639009	chr6:164226768-164226769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567999011	chr6:164226785-164226786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542504250	chr6:164226806-164226807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535484071	chr6:164226849-164226850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75582339	chr6:164226925-164226926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572488788	chr6:164226945-164226946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544791355	chr6:164226970-164226971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539650428	chr6:164227056-164227057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564964906	chr6:164227083-164227084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149627596	chr6:164227095-164227096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543953394	chr6:164227100-164227101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551265481	chr6:164227111-164227112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563861637	chr6:164227125-164227126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554158177	chr6:164227145-164227146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6455922	chr6:164227224-164227225	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs144237944	chr6:164227267-164227268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566115962	chr6:164227298-164227299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6914115	chr6:164227321-164227322	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs551608010	chr6:164227368-164227369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571670768	chr6:164227369-164227370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536863392	chr6:164227423-164227424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557162131	chr6:164227483-164227484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567120666	chr6:164227501-164227502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557917248	chr6:164227570-164227571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148707772	chr6:164227614-164227615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193080020	chr6:164227642-164227643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74413411	chr6:164227643-164227644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164226200-164226400	Enhancers	K562	blood
2	chr6:164226400-164228400	Weak transcription	K562	blood
3	chr6:164226400-164231200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:164227200-164227400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:164227200-164227400	Enhancers	Fetal Muscle Trunk	muscle
6	chr6:164227200-164227600	Enhancers	Adipose Nuclei	Adipose
7	chr6:164227400-164228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:164227400-164228200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:164227400-164228400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:164227800-164228200	Enhancers	Adipose Nuclei	Adipose
11	chr6:164228200-164228400	Enhancers	Fetal Muscle Trunk	muscle
12	chr6:164228200-164228600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:164228400-164228600	Enhancers	Brain Germinal Matrix	brain
14	chr6:164228400-164228800	Flanking Active TSS	K562	blood
15	chr6:164228400-164234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:164228600-164231800	Weak transcription	Brain Germinal Matrix	brain
17	chr6:164228800-164230800	Enhancers	K562	blood
18	chr6:164229400-164229800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:164229600-164230200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:164229600-164230400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:164229600-164232000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:164229800-164230200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:164230000-164232200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:164230200-164230400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:164230400-164232200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:164230400-164249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:164230800-164231200	Weak transcription	K562	blood
28	chr6:164230800-164231600	Weak transcription	Psoas Muscle	Psoas
29	chr6:164231200-164231800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:164231200-164231800	Enhancers	K562	blood
31	chr6:164231200-164232600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:164231400-164231800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:164231400-164232600	Enhancers	Fetal Kidney	kidney
34	chr6:164231400-164233200	Enhancers	Fetal Heart	heart
35	chr6:164231600-164231800	Enhancers	Ovary	ovary
36	chr6:164231600-164232400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:164231600-164232400	Enhancers	Psoas Muscle	Psoas
38	chr6:164231600-164232600	Enhancers	Fetal Muscle Leg	muscle
39	chr6:164231800-164232200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:164231800-164232400	Enhancers	Brain Germinal Matrix	brain
41	chr6:164231800-164232400	Weak transcription	Ovary	ovary
42	chr6:164231800-164234000	Weak transcription	K562	blood
43	chr6:164231800-164235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr6:164232000-164235800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:164232200-164232400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr6:164232200-164232600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:164232200-164235800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr6:164232400-164232600	Enhancers	Ovary	ovary
49	chr6:164232400-164232800	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:164232400-164234400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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